17-10333148-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_003802.3(MYH13):āc.2100C>Gā(p.Asn700Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000516 in 1,551,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N700S) has been classified as Uncertain significance.
Frequency
Consequence
NM_003802.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH13 | NM_003802.3 | c.2100C>G | p.Asn700Lys | missense_variant | 19/41 | ENST00000252172.9 | |
LOC107985004 | XR_007065617.1 | n.682-7916G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH13 | ENST00000252172.9 | c.2100C>G | p.Asn700Lys | missense_variant | 19/41 | 1 | NM_003802.3 | P1 | |
MYH13 | ENST00000621918.1 | c.2100C>G | p.Asn700Lys | missense_variant | 17/39 | 1 | P1 | ||
ENST00000577743.1 | n.247-7916G>C | intron_variant, non_coding_transcript_variant | 2 | ||||||
MYH13 | ENST00000418404.8 | c.2100C>G | p.Asn700Lys | missense_variant | 18/40 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000643 AC: 1AN: 155548Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82312
GnomAD4 exome AF: 0.00000500 AC: 7AN: 1399432Hom.: 0 Cov.: 52 AF XY: 0.00000580 AC XY: 4AN XY: 690234
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74266
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at